Presse Med
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Lipodystrophic syndromes (LS) constitute a clinically and genetically heterogeneous group of diseases characterized by a loss of adipose tissue. These syndromes are usually associated with metabolic complications, which are determinant for morbidity and mortality. The classical forms of LS include partial, generalized, and progeroid lipodystrophies. ⋯ The challenge for geneticists is now the interpretation of the amount of available genetic data, generated especially by exome and whole-genome sequencing. International recommendations on the interpretation and classification of variants have been set up and are regularly reassessed. Very close collaboration between geneticists, clinicians, and researchers will be necessary to make rapid progress in understanding the molecular and cellular basis of these diseases, and to promote personalized medicine.
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Patients with multiple sclerosis, despite advances in therapy, often suffer from locomotor impairment that limits their mobility and affect quality of life. Rehabilitation is part of the treatment of MS and has shown its beneficial effects in numerous studies. While traditional rehabilitation techniques remain in the limelight, new technologies are emerging and make it possible to improve the management of disabling symptoms. ⋯ Action observation training in real or virtual situations is also effective. Finally, under certain conditions the constraint induced movement therapy is proposed. The effects of rehabilitation are not only positive on the pyramidal symptoms and fatigue but also increase neuroplasticity and perhaps a neuroprotective effect as shown in some studies.
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Multiple sclerosis is a major socio-economical burden as it represents the most common cause of non-traumatic neurological disability in young adults [1]. It affects also children with a lower prevalence and incidence but remains a major concern as disability may occur later during their adulthood. Therefore, there is an absolute need for earlier diagnosis and treatment. In this review, we would focus on how these objectives can be achieved.
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Multiple sclerosis (MS) is a chronic inflammatory and immune-driven demyelinating disease of the central nervous system (CNS). During the past decade, major advances have been made to understand the development of MS as well as its progressive stage. Here, we discuss some emerging concepts on immunology of MS, including the growing interest in the involvement of gut microbiota and the recent pathological concepts on the progression phase. Finally, we present some immuno-tools recently available that contribute to better understand diversity and function of the immune system.
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Over the past decades, MRI has become a major tool in the diagnosis and the follow-up of patients with multiple sclerosis (MS), especially for monitoring the effectiveness of therapy. The recent international recommendations issued for the standardization of neurological and radiological clinical practices converge on many points. In this setting, recommendations made by the "Observatoire français de la sclérose en plaques", the French MS registry, can be distinguished by its interdisciplinary complementarity, its longevity, its size, and its positions in direct connection with the clinic. ⋯ The result of this round table bringing together neurologists and neuroradiologists from specialized centers was published in the form of a recommendation in early 2020. The interest of this project also lies in the constant improvement of the management of patients with MS and the possibility of developing advanced techniques to assist the clinician. The aim of this review is to explain to the neurologist, the interest of following this imaging protocol both in his/her clinical practice and in the possibilities that this opens up.